Detalhe da pesquisa
1.
Altered ceramide metabolism is a feature in the extracellular vesicle-mediated spread of alpha-synuclein in Lewy body disorders.
Acta Neuropathol
; 142(6): 961-984, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34514546
2.
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Genome Res
; 27(1): 165-173, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28003435
3.
The Role of Nerve Growth Factor in Maintaining Proliferative Capacity, Colony-Forming Efficiency, and the Limbal Stem Cell Phenotype.
Stem Cells
; 37(1): 139-149, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30599086
4.
Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1.
Ann Neurol
; 83(5): 915-925, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29604226
5.
Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease.
Ann Neurol
; 78(6): 1000-4, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26343811
6.
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Brain
; 137(Pt 5): 1323-36, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24727571
7.
Pluripotent stem cell-derived models of retinal disease: Elucidating pathogenesis, evaluating novel treatments, and estimating toxicity.
Prog Retin Eye Res
; 100: 101248, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38369182
8.
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.
Nat Commun
; 15(1): 3138, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605034
9.
Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease.
J Neurochem
; 123(2): 298-309, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22803570
10.
Retinal pigment epithelium extracellular vesicles are potent inducers of age-related macular degeneration disease phenotype in the outer retina.
J Extracell Vesicles
; 11(12): e12295, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36544284
11.
Reduced mitochondrial DNA is not a biomarker of depression in Parkinson's disease.
Mov Disord
; 31(12): 1923-1924, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27753152
12.
Post-mortem ventricular cerebrospinal fluid cell-free-mtDNA in neurodegenerative disease.
Sci Rep
; 10(1): 15253, 2020 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32943697
13.
Complement modulation reverses pathology in Y402H-retinal pigment epithelium cell model of age-related macular degeneration by restoring lysosomal function.
Stem Cells Transl Med
; 9(12): 1585-1603, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32815311
14.
Dementia with Lewy bodies: an update and outlook.
Mol Neurodegener
; 14(1): 5, 2019 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30665447
15.
Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.
Acta Neuropathol Commun
; 5(1): 13, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28153046
16.
Age-related macular degeneration - biomarkers and therapies.
Regen Med
; 16(5): 431-434, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34008416
17.
Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease.
Neurobiol Aging
; 38: 216.e7-216.e10, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26639155
18.
Somatic mtDNA variation is an important component of Parkinson's disease.
Neurobiol Aging
; 38: 217.e1-217.e6, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26639157
19.
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.
Mol Neurodegener
; 10: 15, 2015 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25881142
20.
Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.
JAMA Neurol
; 72(1): 106-11, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25420100